A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615300



Internal ID7002189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143097437..143200309hg38UCSC Ensembl
chr7:142794530..142897402hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38102873
hg19102873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12991917, essv12991925, essv12991931, essv12991923, essv12991922, essv12991926, essv12991918, essv12991929, essv12991928, essv12991932, essv12991927, essv12991920, essv12991933, essv12991919, essv12991921, essv12991924, essv12991930
SamplesHG02481, HG01518, HG00122, NA19678, HG02278, HG01284, HG01164, HG00260, NA21119, NA20895, HG01161, HG01936, NA20801, NA20530, HG01055, NA11892, HG01608
Known GenesPIP, TAS2R39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615300
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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